A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640480



Internal ID6680567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36761281..37124883hg38UCSC Ensembl
chr17:35117732..35481805hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38363603
hg19364074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15666470, essv15666469
SamplesNA20362, NA20359
Known GenesAATF, ACACA, LHX1, MIR2909
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640480
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer